Search Ontology:
Human Disease

isolated glycolic aciduria

Term ID
DOID:0081464
Synonyms
Definition
A carbohydrate metabolic disorder that is characterized by markedly elevated urinary and plasma glycolate without further metabolic disease consequences and that has_material_basis_in homozygous mutation in the HAO1 gene on chromosome 20p12. https://pubmed.ncbi.nlm.nih.gov/32207686/
References
Ontology
Human Disease   ( DOID:0081464 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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